ADULT syndrome

ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth syndrome) is a rare ectodermal dysplasia caused by mutations in the TP63 gene located on chromosome 3q27. This condition affects multiple body systems derived from the ectoderm, including the skin, nails, lacrimal (tear) ducts, teeth, and limbs. ADULT syndrome shares clinical features with other TP63-related disorders such as EEC syndrome (Ectrodactyly-Ectodermal dysplasia-Clefting syndrome) and Limb-Mammary syndrome, but is distinguished by its specific combination of features and typically the absence of orofacial clefting. Key clinical features include ectrodactyly (split hand/foot malformation) or other limb anomalies, excessive freckling or other skin changes, nail dysplasia (abnormal or underdeveloped nails), lacrimal duct obstruction leading to chronic tearing and recurrent eye infections, and dental anomalies such as early loss of permanent teeth, hypodontia (missing teeth), or small teeth. Patients may also have thin or sparse hair, dry skin, and mammary gland or nipple hypoplasia. The severity and combination of features can vary considerably even within the same family. There is currently no cure for ADULT syndrome. Treatment is symptomatic and supportive, tailored to the individual's specific manifestations. This may include surgical correction of limb malformations, dental prosthetics or implants for tooth abnormalities, probing or surgical repair of blocked lacrimal ducts, dermatologic care for skin findings, and regular monitoring by a multidisciplinary team including geneticists, dermatologists, ophthalmologists, dentists, and orthopedic specialists. Genetic counseling is recommended for affected individuals and their families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about ADULT syndrome